Variant report

Variant	rs342321
Chromosome Location	chr11:72354390-72354391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr11:72353997-72354394	GM12878	blood:	n/a	n/a
2	RAD21	chr11:72354051-72354426	GM12878	blood:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
3	CTCF	chr11:72354098-72354397	GM10248	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
4	MAX	chr11:72353364-72354916	Hela-S3	cervix:	n/a	chr11:72353938-72353948
5	TCF12	chr11:72353912-72355011	A549	lung:	n/a	chr11:72354812-72354819
6	MAX	chr11:72353833-72354462	NB4	blood:	n/a	chr11:72353938-72353948
7	MYC	chr11:72353990-72354475	NB4	blood:	n/a	n/a
8	POLR2A	chr11:72353870-72354958	Hela-S3	cervix:	n/a	n/a
9	KAP1	chr11:72353983-72354393	U2OS	brain:	n/a	n/a
10	FOS	chr11:72354256-72354969	MCF10A-Er-Src	breast:	n/a	chr11:72354777-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354774-72354785 chr11:72354776-72354784 chr11:72354667-72354677 chr11:72354667-72354677 chr11:72354728-72354739 chr11:72354668-72354676
11	CTCF	chr11:72354061-72354426	Lung_OC	lung:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
12	RAD21	chr11:72353967-72354487	H1-hESC	embryonic stem cell:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
13	E2F6	chr11:72353544-72354408	K562	blood:	n/a	chr11:72353789-72353801
14	CTCF	chr11:72354003-72354472	HepG2	liver:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
15	JUND	chr11:72354034-72354478	A549	lung:	n/a	n/a
16	CTCF	chr11:72354093-72354396	Kidney_OC	kidney:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
17	ZNF143	chr11:72354032-72354392	K562	blood:	n/a	chr11:72354237-72354247
18	RAD21	chr11:72353831-72354874	HCT-116	colon:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
19	SIN3A	chr11:72353539-72354503	H1-hESC	embryonic stem cell:	n/a	chr11:72354328-72354341 chr11:72353579-72353592
20	ZBTB7A	chr11:72353510-72354581	ECC-1	luminal epithelium:	n/a	chr11:72354239-72354248
21	E2F6	chr11:72353402-72354472	K562	blood:	n/a	chr11:72353789-72353801
22	POLR2A	chr11:72354353-72354419	Hela-S3	cervix:	n/a	n/a
23	NFIC	chr11:72354128-72355194	SK-N-SH	brain:	n/a	n/a
24	RAD21	chr11:72354045-72354395	SK-N-SH_RA	brain:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
25	MYC	chr11:72353670-72354511	K562	blood:	n/a	chr11:72353938-72353948
26	SMC3	chr11:72354004-72354449	GM12878	blood:	n/a	chr11:72354240-72354250 chr11:72354240-72354254
27	BHLHE40	chr11:72353670-72354400	K562	blood:	n/a	n/a
28	CTCF	chr11:72354023-72354618	GM19238	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
29	CTCF	chr11:72353985-72354486	K562	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
30	CTCF	chr11:72354097-72354557	GM10266	blood:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
31	MAX	chr11:72353701-72354443	A549	lung:	n/a	chr11:72353938-72353948
32	HCFC1	chr11:72354030-72354392	K562	blood:	n/a	n/a
33	CTCF	chr11:72354109-72354397	HepG2	liver:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
34	E2F6	chr11:72353891-72354420	A549	lung:	n/a	n/a
35	ZMIZ1	chr11:72354034-72354434	K562	blood:	n/a	n/a
36	MXI1	chr11:72353973-72354413	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr11:72353968-72354499	MCF-7	breast:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
38	MAX	chr11:72353807-72354691	H1-hESC	embryonic stem cell:	n/a	chr11:72353938-72353948
39	PAX5	chr11:72354039-72354392	GM12878	blood:	n/a	n/a
40	RAD21	chr11:72354020-72354437	IMR90	lung:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
41	POLR2A	chr11:72354022-72354477	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr11:72353939-72354628	HCT-116	colon:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
43	MAX	chr11:72353569-72354390	ECC-1	luminal epithelium:	n/a	chr11:72353938-72353948
44	STAT1	chr11:72354092-72354392	GM12878	blood:	n/a	n/a
45	RAD21	chr11:72353955-72354500	SK-N-SH_RA	brain:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
46	MAZ	chr11:72353557-72354925	Hela-S3	cervix:	n/a	chr11:72353938-72353948
47	RAD21	chr11:72354061-72354464	ECC-1	luminal epithelium:	n/a	chr11:72354238-72354250 chr11:72354236-72354255 chr11:72354289-72354302 chr11:72354216-72354230 chr11:72354240-72354250
48	CTCF	chr11:72353545-72355632	SK-N-SH	brain:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256
49	SP4	chr11:72354017-72354436	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr11:72353965-72354481	A549	lung:	n/a	chr11:72354240-72354253 chr11:72354293-72354306 chr11:72354239-72354255 chr11:72354238-72354256

No.	Distal block	Cell Line	Cell type
1	chr11:72352379..72355272-chr11:72384070..72386668,2	K562	blood:
2	chr11:72300263..72302231-chr11:72352736..72355134,2	K562	blood:
3	chr11:72300551..72301398-chr11:72353784..72354837,3	MCF-7	breast:
4	chr11:72353566..72355741-chr11:72369161..72371805,2	MCF-7	breast:
5	chr11:72300430..72301672-chr11:72353759..72354743,12	MCF-7	breast:
6	chr11:72300453..72301777-chr11:72353784..72354737,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATG16L2-4	chr11:72354281-72354562	ENSG00000255808.1

Variant related genes	Relation type
PDE2A	TF binding region
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1038377	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898861	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs151449	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs341038	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341050	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs366068	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3781923	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781926	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs401999	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs455631	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs458437	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs459309	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs459546	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs460633	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs464853	0.96[ASN][1000 genomes]
rs676845	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs676911	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
4	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72351000-72354400	Active TSS	Right Atrium	heart
2	chr11:72351400-72354400	Active TSS	Brain Angular Gyrus	brain
3	chr11:72351800-72354400	Active TSS	Ovary	ovary
4	chr11:72352600-72354800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:72352800-72354400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:72352800-72354600	Bivalent/Poised TSS	HepG2	liver
7	chr11:72353000-72354400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr11:72353000-72354400	Active TSS	Brain Hippocampus Middle	brain
9	chr11:72353000-72354600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:72353000-72354600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:72353000-72354600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:72353000-72354600	Active TSS	Colon Smooth Muscle	Colon
13	chr11:72353000-72355000	Enhancers	Fetal Brain Male	brain
14	chr11:72353200-72354400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:72353200-72354400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:72353200-72354400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:72353200-72354400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr11:72353200-72354400	Active TSS	Hela-S3	cervix
19	chr11:72353200-72354400	Active TSS	HSMM	muscle
20	chr11:72353200-72354400	Active TSS	HSMMtube	muscle
21	chr11:72353200-72354600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:72353200-72354600	Active TSS	Brain Anterior Caudate	brain
23	chr11:72353200-72354600	Active TSS	Fetal Brain Female	brain
24	chr11:72353200-72354600	Active TSS	K562	blood
25	chr11:72353400-72354400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:72353400-72354400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:72353400-72354400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:72353400-72354400	Active TSS	Psoas Muscle	Psoas
29	chr11:72353400-72354400	Active TSS	A549	lung
30	chr11:72353400-72354600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:72353400-72354600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:72353400-72355000	Enhancers	Spleen	Spleen
33	chr11:72353400-72355200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:72353600-72354400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr11:72353600-72354400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr11:72353600-72354400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr11:72353600-72354400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:72353600-72354400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr11:72353600-72354600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr11:72353600-72354600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
41	chr11:72353600-72354600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:72353600-72354600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:72353600-72354600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:72353600-72354600	Flanking Active TSS	Pancreas	Pancrea
45	chr11:72353600-72354600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:72353600-72354600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr11:72353600-72354800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:72353600-72354800	Flanking Active TSS	HMEC	breast
49	chr11:72353800-72354400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr11:72353800-72354400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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